Genetics of rheumatoid arthritis
Genetics of rheumatoid arthritis
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DOI：
10.4065/81.1.94
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发表时间：
2006-01-01
影响因子：
8.9
通讯作者：
Matteson, EL
中科院分区：
文献类型：
--
作者：
Turesson, C;Matteson, EL
类风湿性关节炎（RA）是一种病因不明的异质性自身免疫性疾病，临床表现多样。大约70%的患者是女性。遗传因素起着重要作用，可能占疾病易感性和表达的60%左右。与HLA-DRB 1基因的关联是最好理解的，尽管几个非HILA基因座已经与RA相关，包括TNFRSR 11 A基因的18 q21区域，其编码核因子κ B B的受体激活剂，在RA的骨吸收中是重要的。遗传因素在RA的治疗中也很重要，因为与药物如甲氨蝶呤和硫唑嘌呤代谢相关的酶的活性，包括亚甲基四氢叶酸还原酶和硫嘌呤甲基转移酶，部分由遗传决定。
Rheumatoid arthritis (RA) is a heterogeneous autoimmune disorder of unknown cause with variable clinical expression. About 70% of patients are women. Genetic factors play an important role and likely account for about 60% of disease susceptibility and expression. The association with the HLA-DRB1 gene Is the best understood, although several non-HILA loci have been linked to RA, Including the 18q21 region of the TNFRSR11A gene, which encodes the receptor activator of nuclear factor kappa B, important in bone resorption in RA. Genetic factors are also important In the treatment of RA because the activity of enzymes relevant in the metabolism of drugs such as methotrexate and azathioprine, including methylenetetrahydrofolate reductase and thiopurine methyltransferase, are in part genetically determined.